单位：[1]Department of Pharmacy, Beijing Tiantan Hospital, Capital Medical University, Beijing, China首都医科大学附属天坛医院[2]Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China首都医科大学附属天坛医院[3]China National Clinical Research Center for Neurological Diseases, Beijing, China[4]Center of Stroke, Beijing Institute for Brain Disorder, Beijing, China[5]Department of Neurosurgery, China-Japan Friendship Hospital, Beijing, China
Background: Gene polymorphism especially Ring Finger Protein 213 (RNF213) p.R4810K is one of the main cause of moyamoya disease (MMD) in Asian populations, especially among Japanese people. However, missense mutation may not explain the reduced frequency of MMD in Chinese patients. We performed a hospital based case-control study in a Chinese population to elucidate the possible underlying reasons. Methods: Five gene polymorphism loci, namely, rs35692831, rs9916351, rs9913636, rs8074015 and rs112735431, were included. A total of 98 patients and 114 healthy controls were enrolled in the study. Genomic DNA was genotyped by Mass Array methods. Results: A significant difference was observed between patients and healthy controls in rs9916351, rs9913636, and rs8074015 loci under three genotypes and allelic models (P<0.01). Logistic regression analysis revealed the significant differences under the dominant, recessive and additional model in rs9916351 [odds ratio (OR) =4.173, 95% confidence interval (CI): 2.290-7.606, P<0.001; OR =3.152, 95% CI: 1.585-6.267, P=0.001; OR =0.199, 95% CI: 1.727-3.764, P<0.001; respectively] and rs8074015 (OR =0.359, 95% CI: 0.206-0.627, P<0.001; OR =0.348, 95% CI: 0.148-0.81, P=0.015; OR =0.208, 95% CI: 0.311-0.703, P<0.001; respectively), even adjusting for age and gender. In addition, the haplotype rs9913636-rs8074015 under "GACG" showed significant association with MMD. Conclusions: Our results had revealed the polymorphism of RNF213 rs9916351 and rs8074015 were significantly associated with MMD especially in Chinese population.
基金：
China Postdoctoral Science FoundationChina Postdoctoral Science Foundation [2017M620700]; Natural Science Foundation of ChinaNational Natural Science Foundation of China (NSFC) [81803909]; Beijing Municipal Administration of Hospitals [ZYLX201827]
第一作者单位：[1]Department of Pharmacy, Beijing Tiantan Hospital, Capital Medical University, Beijing, China
共同第一作者：
通讯作者：
通讯机构：[1]Department of Pharmacy, Beijing Tiantan Hospital, Capital Medical University, Beijing, China[2]Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China[3]China National Clinical Research Center for Neurological Diseases, Beijing, China[4]Center of Stroke, Beijing Institute for Brain Disorder, Beijing, China[*1]Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.[*2]Department of Pharmacy, Beijing Tiantan Hospital, Capital Medical University, Beijing, China
推荐引用方式(GB/T 7714)：
Zhu Bin,Liu Xingju,Zhen Xueke,et al.RNF213 gene polymorphism rs9916351 and rs8074015 significantly associated with moyamoya disease in Chinese population[J].ANNALS of TRANSLATIONAL MEDICINE.2020,8(14):doi:10.21037/atm-20-1040.
APA：
Zhu, Bin,Liu, Xingju,Zhen, Xueke,Li, Xixi,Wu, Mingfen...&Zhao, Jizong.(2020).RNF213 gene polymorphism rs9916351 and rs8074015 significantly associated with moyamoya disease in Chinese population.ANNALS of TRANSLATIONAL MEDICINE,8,(14)
MLA：
Zhu, Bin,et al."RNF213 gene polymorphism rs9916351 and rs8074015 significantly associated with moyamoya disease in Chinese population".ANNALS of TRANSLATIONAL MEDICINE 8..14(2020)
